Variant report

Variant	esv3360304
Chromosome Location	chr19:55775740-55779938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55773883..55776073-chr19:55852353..55855186,2	K562	blood:
2	chr19:55769636..55772439-chr19:55775866..55779164,3	MCF-7	breast:
3	chr19:55773531..55777148-chr19:55894970..55897401,3	K562	blood:
4	chr19:55777829..55780737-chr19:55781551..55785308,5	K562	blood:
5	chr19:55771722..55774869-chr19:55779849..55782643,3	MCF-7	breast:
6	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
7	chr19:55776217..55777883-chr19:55788323..55791248,2	MCF-7	breast:
8	chr19:55769052..55771569-chr19:55779217..55781447,2	MCF-7	breast:
9	chr19:55777858..55780757-chr19:55781409..55785312,6	K562	blood:
10	chr19:55768904..55773480-chr19:55773783..55776952,7	MCF-7	breast:
11	chr19:55776171..55778320-chr19:55895617..55898600,2	MCF-7	breast:
12	chr19:55779224..55783454-chr19:55783961..55787688,4	MCF-7	breast:
13	chr19:55774813..55777090-chr19:55892887..55895596,2	MCF-7	breast:
14	chr19:55760554..55762516-chr19:55775183..55776712,2	K562	blood:
15	chr19:55767980..55772486-chr19:55779343..55783003,7	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP6R1-1	chr19:55775355-55775745	NONHSAT068015

No data

Variant related genes	Relation type
ENSG00000133265	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000133247	chromatin interactions
ENSG00000108107	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563980316	chr19:55775782-55775783	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs551440438	chr19:55775878-55775879	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs192982003	chr19:55775895-55775896	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs371642586	chr19:55775897-55775898	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs549357807	chr19:55775917-55775918	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs78820552	chr19:55775946-55775947	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs533679558	chr19:55775983-55775984	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs527816218	chr19:55775988-55775989	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs199632847	chr19:55775990-55775991	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs150114518	chr19:55776002-55776003	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368081211	chr19:55776013-55776014	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs570179809	chr19:55776068-55776069	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs539056511	chr19:55776179-55776180	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs547431897	chr19:55776190-55776191	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372278440	chr19:55776214-55776215	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs138699488	chr19:55776227-55776228	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs535733007	chr19:55776230-55776231	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs373676277	chr19:55776233-55776234	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs555310580	chr19:55776237-55776238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs572180657	chr19:55776280-55776281	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs143257306	chr19:55776320-55776321	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs367821824	chr19:55776350-55776351	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs558297171	chr19:55776351-55776352	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs578112559	chr19:55776404-55776405	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs543841225	chr19:55776406-55776407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs554734659	chr19:55776419-55776420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs529600276	chr19:55776420-55776421	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs543289659	chr19:55776436-55776437	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs559769548	chr19:55776448-55776449	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs184027548	chr19:55776480-55776481	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs188875024	chr19:55776481-55776482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs532863087	chr19:55776492-55776493	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs575627044	chr19:55776498-55776499	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs536722009	chr19:55776516-55776517	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs549407935	chr19:55776517-55776518	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554677445	chr19:55776531-55776532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs572855180	chr19:55776539-55776540	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs78357667	chr19:55776548-55776549	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs147510053	chr19:55776597-55776598	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs370434885	chr19:55776604-55776605	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs199780503	chr19:55776605-55776606	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs565800121	chr19:55776607-55776608	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs192659916	chr19:55776629-55776630	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs201916715	chr19:55776634-55776635	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372591653	chr19:55776641-55776642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs201440059	chr19:55776677-55776678	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs370693267	chr19:55776681-55776682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs199622796	chr19:55776686-55776687	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs374027253	chr19:55776687-55776688	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs367906731	chr19:55776712-55776713	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771200-55776200	Weak transcription	Ovary	ovary
2	chr19:55771200-55776800	Weak transcription	Gastric	stomach
3	chr19:55771200-55777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:55771400-55776200	Weak transcription	Lung	lung
5	chr19:55771400-55776800	Weak transcription	Colonic Mucosa	Colon
6	chr19:55771400-55777600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:55771400-55777600	Weak transcription	Fetal Kidney	kidney
8	chr19:55771400-55777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:55771400-55777800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:55771400-55777800	Weak transcription	NHLF	lung
11	chr19:55771400-55780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:55771400-55780600	Weak transcription	Brain Substantia Nigra	brain
13	chr19:55771400-55780800	Weak transcription	Right Ventricle	heart
14	chr19:55771400-55781400	Weak transcription	Liver	Liver
15	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:55771400-55787800	Weak transcription	Osteobl	bone
18	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
19	chr19:55771400-55790400	Weak transcription	HSMM	muscle
20	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
21	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
22	chr19:55771600-55776200	Weak transcription	Fetal Brain Female	brain
23	chr19:55771600-55776200	Weak transcription	Fetal Intestine Large	intestine
24	chr19:55771600-55777000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:55771600-55777200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:55771600-55777400	Weak transcription	Spleen	Spleen
27	chr19:55771600-55777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:55771600-55777600	Weak transcription	Fetal Lung	lung
29	chr19:55771600-55777600	Weak transcription	Pancreas	Pancrea
30	chr19:55771600-55777800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:55771600-55777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:55771600-55777800	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:55771600-55777800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:55771600-55777800	Weak transcription	Fetal Brain Male	brain
35	chr19:55771600-55777800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:55771600-55779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:55771600-55779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:55771600-55779800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:55771600-55780600	Weak transcription	Brain Anterior Caudate	brain
40	chr19:55771600-55781000	Weak transcription	Adipose Nuclei	Adipose
41	chr19:55771600-55781800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr19:55771600-55781800	Weak transcription	Aorta	Aorta
43	chr19:55771600-55782600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:55771600-55783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:55771600-55783400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:55771600-55783600	Weak transcription	Placenta	Placenta
47	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
50	chr19:55771800-55777800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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